C0035372[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495261	NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	RHOBTB2 (R511W +2 more)	Single nucleotide variant (missense variant)	Rett syndrome +3 more	GPathogenic/Likely pathogenic
Select item 143393	NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)	MECP2 (P388S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 95184	NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)	MECP2 (P388S +2 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File